目的 探讨固醇-27羟化酶(CYP27A1)基因变异引起的脑黄腱瘤患儿的临床特点,肝脏病理改变及预后。方 法 回顾分析1例CYP27A1基因变异引起的脑黄腱瘤患儿的临床特点,并复习相关文献。结果 患儿,女, 1月龄,表现为 胆汁淤积、肝大、转氨酶升高,谷氨酸转移酶及总胆汁酸正常;病理检查提示肝内胆汁淤积、炎症细胞浸润,毛细胆管扩张 及增生;基因检测示CYP27A1基因剪接位点c.1263+1G>A / c.1477-3C>G复合杂合变异,其中c.1477-3C>G为一新颖变 异。结论 婴儿期出现胆汁淤积、转氨酶升高、肝肿大,而谷氨酸转移酶及总胆汁酸正常或减低,需警惕胆汁酸合成障碍, 应尽早完善基因检测,以早期诊断及治疗,改善预后。
Objective To discuss the clinical features,hepatic pathology,and prognosis of cerebrotendinous xanthomatosis in a child caused by CYP27A1 mutation. Methods Clinical features of a child with cerebrotendinous xanthomatosis were retrospectively analyzed, and the related literatures viewed. Results The child had different degrees of cholestasis, hepatomegaly, elevated transaminases, normal-glutamyl GGT(γ-GT) and normal total bile acid. The hepatic pathology showed intrahepatic cholestasis, inflammatory cell infiltration and expansion and hyperplasia of bile capillary. Gene testing found heterozygous mutations of CYP27A1 (c.1263+1G>A / c.1477-3C>G) in the child. The variant of c.1477-3C>G is a novel mutation. Conclusions The possibility of bile acid synthesis disorder should be considered when infants have cholestasis, elevated transaminase, hepatomegaly, and normal or reduced γ-GT and total bile acid. Gene testing should be used for early diagnosis, treatment to improve prognosis.